Zobrazeno 1 - 2
of 2
pro vyhledávání: '"M. C. M. Eurlings"'
Autor:
Patrick Franken, Peter E.M. Taschner, B. B. A. De Vries, O. P. van Diggelen, J. L. M. Keulemans, Coriene E. Catsman-Berrevoets, W. J. Kleijer, M. C. M. Eurlings, Martijn H. Breuning, Robert Jan H. Galjaard, Monique Losekoot, Y. V. Voznyi
Publikováno v:
Prenatal Diagnosis. 19:559-562
Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy at risk for INCL
Autor:
Victor H. Garritsen, H. Stroink, Peter E.M. Taschner, Patrick Franken, J. L. M. Keulemans, Frans J. Los, W. J. Kleijer, Monique Losekoot, Robert-Jan H. Galjaard, M. C. M. Eurlings, D. Majoor-Krakauer, O. P. van Diggelen
Publikováno v:
Prenatal Diagnosis. 21:99-101
Late-infantile neuronal ceroid lipofuscinosis (LINCL) is a progressive neurodegenerative disorder caused by the deficiency of lysosomal tripeptidyl peptidase I (TPP-I) encoded by the CLN2 gene. We report the first case of early prenatal diagnosis of